Can you carry the gene and not express it?

[jennvin]

Lisa may remember me from helping my sister-in-law, Cheri, who has HOCM. She talked with another SIL, Dawn, at length about the disease. My husband also has HOCM and earlier this year our daughter who at the time was 14 months old was diagnosed as well. We are currently starting the process of being involved in a research study at Massachusetts General to find the gene.

What my in-laws would like to know is this:

1. If another family member has the gene, does that mean he or she will DEFINITELY have HOCM?
2. Can you carry it and not express it?
3. If he or she has the gene, can they be just "at risk" for having HOCM?

I'd like to get a definite answer of yes or no, but know that there may not be one. Any help would be appreciated!!

[Cynaburst]

Re: Can you carry the gene and not express it?

You can have the gene and not express the disease. A person who has the gene would always be at risk for developing the disease, and would have to be watched very carefully. On the other hand, if the person has no gene, they are in the clear.

There is a 50% chance that a person with HCM will pass on the gene.

Hope this helps.

[jennvin]

Re: Can you carry the gene and not express it?

Thank you, it helps very much.

[Lisa Salberg]

Re: Can you carry the gene and not express it?

In short... at this time it is thought that if you carry the gene it is likely that sometime in your life it will be expressed. We have no idea to what degree or at what age.


So...yes, no and maybe... sorry that is the best I can do.

And yes I remember your family - -I hope all is well!

Lisa

[jennvin]

Re: Can you carry the gene and not express it?

Hi Lisa and thanks for responding.

Well, let me start with Cheri. She is doing so-so. Her cardiologist has suggested that she have surgery again, but at this point and time, she has opted not to do so. It was very stressful for her. Her cardiologist said at some point she will get tired of feeling the way she does and may reconsider. We shall see. . .

As far as my daughter goes, we were actually shocked that they detected it so early in life. For some reason we always had this idea that it couldn't be detected until adolescence. We were just going there to establish a relationship with her pediatric cardiologist and to start a medical file for her. So they did the normal testing, etc. and found it through the echo. I thought my husband was going to faint. Right now she is on a beta blocker but is doing fine. Her doctor said to let her be a normal child, but as far as competitive sports/recretation goes, she will be limited, which we knew.

So now, we sit and wait to see if the gene can be detected through my daughter's, husband's and Cheri's bloodwork, which could take up to a year.

[Lisa Salberg]

Re: Can you carry the gene and not express it?

I would like to talk to you - -it has been a while and I would like to know what is happening with Cheri??? I am concerned, there is rarely a need for 2 myectomies in an adult?? Can you PM me a # where I can reach you on Thursday??
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Lisa